G34S (p.Gly34Ser) variant of OCA2 (P protein)
G34S (p.Gly34Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
G34S (p.Gly34Ser) variant details
- p.Gly34Ser
- rs367553582
- ClinGen CA7439581
- cosmic curated COSV10066
- ClinVar RCV001911234
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.37
- MetaSVM -0.67
- CADD 0.36
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available