V57A (p.Val57Ala) variant of RP2 (Protein XRP2)
V57A (p.Val57Ala) 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 0.51 / 1. The record also includes population frequency data and structural context.
V57A (p.Val57Ala) variant details
- p.Val57Ala
- rs2519913839
- ClinGen CA413038931
- ClinVar RCV003027493
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.49
- CADD 23.50
- PolyPhen-2 0.41
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available