G13R (p.Gly13Arg) variant of OCA2 (P protein)
G13R (p.Gly13Arg) in OCA2 (P protein) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G13R (p.Gly13Arg) variant details
- p.Gly13Arg
- 1000Genomes rs201554429
- ESP rs201554429
- ExAC rs201554429
- TOPMed rs201554429
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.61
- MetaSVM -0.38
- CADD 5.34
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available