P17P (p.Pro17Pro) variant of RP2 (Protein XRP2)
P17P (p.Pro17Pro) 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.
P17P (p.Pro17Pro) variant details
- p.Pro17Pro
- rs370530958
- gnomAD X-46837151-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.135
- CADD 7.74
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available