S86T (p.Ser86Thr) variant of OCA2 (P protein)
S86T (p.Ser86Thr) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S86T (p.Ser86Thr) variant details
- p.Ser86Thr
- rs1024467465
- ClinGen CA267888812
- ClinVar RCV001924577
- ClinVar RCV005692386
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.65
- MetaSVM -0.05
- CADD 19.42
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance (in OCA2)
- UniProt: Uncertain significance (in OCA2)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)