G13S (p.Gly13Ser) variant of OCA2 (P protein)
G13S (p.Gly13Ser) 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 not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G13S (p.Gly13Ser) variant details
- p.Gly13Ser
- rs201554429
- ClinGen CA7439614
- cosmic curated COSV62355
- ClinVar RCV000302507
- Benign/Likely benign
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.60
- MetaSVM -0.47
- CADD 6.71
- ClinVar: Benign/Likely benign (not provided; not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available