R37K (p.Arg37Lys) variant of OCA2 (P protein)
R37K (p.Arg37Lys) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R37K (p.Arg37Lys) variant details
- p.Arg37Lys
- TOPMed rs1175658810
- gnomAD rs1175658810
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.63
- MetaSVM -0.43
- CADD 2.98
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available