R9W (p.Arg9Trp) variant of RP2 (Protein XRP2)
R9W (p.Arg9Trp) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R9W (p.Arg9Trp) variant details
- p.Arg9Trp
- TOPMed rs1206639289
- gnomAD rs1206639289
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.34
- CADD 23.50
- PolyPhen-2 0.12
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available