C93S (p.Cys93Ser) variant of OCA2 (P protein)
C93S (p.Cys93Ser) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
C93S (p.Cys93Ser) variant details
- p.Cys93Ser
- ExAC rs750120991
- gnomAD rs750120991
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.46
- MetaSVM -0.66
- CADD 4.78
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available