R10Q (p.Arg10Gln) variant of OCA2 (P protein)
R10Q (p.Arg10Gln) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R10Q (p.Arg10Gln) variant details
- p.Arg10Gln
- rs199752361
- ClinGen CA7439618
- cosmic curated COSV62359
- ClinVar RCV001323063
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.46
- MetaSVM -0.65
- CADD 0.05
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance (in OCA2)
- UniProt: Uncertain significance (in OCA2)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available