R6T (p.Arg6Thr) variant of OCA2 (P protein)
R6T (p.Arg6Thr) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
R6T (p.Arg6Thr) variant details
- p.Arg6Thr
- ExAC rs757294992
- TOPMed rs757294992
- gnomAD rs757294992
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.57
- MetaSVM -0.28
- CADD 12.43
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available