V57V (p.Val57Val) variant of RP2 (Protein XRP2)
V57V (p.Val57Val) in RP2 (Protein XRP2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
V57V (p.Val57Val) variant details
- p.Val57Val
- rs1924897055
- gnomAD X-46853544-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.139
- CADD 8.18
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available