H78L (p.His78Leu) variant of OCA2 (P protein)
H78L (p.His78Leu) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
H78L (p.His78Leu) variant details
- p.His78Leu
- gnomAD rs2042924587
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.74
- MetaSVM 0.01
- CADD 9.37
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available