S104F (p.Ser104Phe) variant of OCA2 (P protein)
S104F (p.Ser104Phe) 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.
S104F (p.Ser104Phe) variant details
- p.Ser104Phe
- cosmic curated COSV10525
- gnomAD rs1235091618
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.51
- MetaSVM -0.40
- CADD 18.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available