G51V (p.Gly51Val) variant of RP2 (Protein XRP2)
G51V (p.Gly51Val) in RP2 (Protein XRP2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G51V (p.Gly51Val) variant details
- p.Gly51Val
- rs781992752
- ExAC rs781992752
- gnomAD rs781992752
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.61
- CADD 21.60
- PolyPhen-2 0.11
- SIFT 0.48
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available