D12G (p.Asp12Gly) variant of RP2 (Protein XRP2)
D12G (p.Asp12Gly) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
D12G (p.Asp12Gly) variant details
- p.Asp12Gly
- gnomAD rs1556313463
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.18
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available