S89C (p.Ser89Cys) variant of OCA2 (P protein)
S89C (p.Ser89Cys) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S89C (p.Ser89Cys) variant details
- p.Ser89Cys
- cosmic curated COSV10066
- TOPMed rs2042923212
- gnomAD rs2042923212
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.65
- MetaSVM -0.16
- CADD 21.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available