R76T (p.Arg76Thr) variant of OCA2 (P protein)
R76T (p.Arg76Thr) in OCA2 (P protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R76T (p.Arg76Thr) variant details
- p.Arg76Thr
- gnomAD rs1367553457
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.82
- MetaSVM 0.28
- CADD 25.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available