G54R (p.Gly54Arg) variant of OCA2 (P protein)
G54R (p.Gly54Arg) 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.
G54R (p.Gly54Arg) variant details
- p.Gly54Arg
- ExAC rs774380004
- gnomAD rs774380004
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.60
- MetaSVM -0.47
- CADD 0.06
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available