S26G (p.Ser26Gly) variant of OCA2 (P protein)
S26G (p.Ser26Gly) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S26G (p.Ser26Gly) variant details
- p.Ser26Gly
- gnomAD rs2044638433
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.63
- MetaSVM -0.17
- CADD 0.12
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available