A334T (p.Ala334Thr) variant of OCA2 (P protein)
A334T (p.Ala334Thr) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Tyrosinase-positive oculocutaneous albini. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A334T (p.Ala334Thr) variant details
- p.Ala334Thr
- rs1456118236
- ClinGen CA391364893
- NCI-TCGA Cosmic COSV6234
- cosmic curated COSV62348
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Tyrosinase-positive oculocutaneous albini
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.59
- MetaLR 0.83
- MetaSVM 0.75
- CADD 24.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Tyrosinase-positive oculo)
- EBI: Pathogenic (in OCA2)
- UniProt: Pathogenic (in OCA2)
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)