P54P (p.Pro54Pro) variant of RP2 (Protein XRP2)
P54P (p.Pro54Pro) in RP2 (Protein XRP2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P54P (p.Pro54Pro) variant details
- p.Pro54Pro
- rs782744976
- gnomAD X-46853535-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.616
- CADD 13.10
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available