R23Q (p.Arg23Gln) variant of RP2 (Protein XRP2)
R23Q (p.Arg23Gln) in RP2 (Protein XRP2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
R23Q (p.Arg23Gln) variant details
- p.Arg23Gln
- rs782167265
- ClinGen CA10394169
- ClinVar RCV002020025
- ExAC rs782167265
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.18
- CADD 0.13
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available