A33V (p.Ala33Val) variant of OCA2 (P protein)
A33V (p.Ala33Val) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- 1000Genomes rs548427771
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.45
- MetaSVM -0.43
- CADD 4.53
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available