T122I (p.Thr122Ile) variant of OCA2 (P protein)
T122I (p.Thr122Ile) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
T122I (p.Thr122Ile) variant details
- p.Thr122Ile
- rs34385677
- ClinGen CA7439507
- ClinVar RCV001520408
- ClinVar RCV004037952
- Benign/Likely benign
- Inborn genetic diseases; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.53
- MetaSVM -0.42
- CADD 5.50
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not provided; not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- 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)