P17R (p.Pro17Arg) variant of RP2 (Protein XRP2)
P17R (p.Pro17Arg) in RP2 (Protein XRP2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P17R (p.Pro17Arg) variant details
- p.Pro17Arg
- rs782387061
- ClinGen CA10394165
- ClinVar RCV002650076
- ExAC rs782387061
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.20
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available