S26T (p.Ser26Thr) variant of OCA2 (P protein)
S26T (p.Ser26Thr) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S26T (p.Ser26Thr) variant details
- p.Ser26Thr
- Ensembl rs2044638335
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.52
- MetaSVM -0.20
- CADD 0.13
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available