S15L (p.Ser15Leu) variant of RP2 (Protein XRP2)
S15L (p.Ser15Leu) in RP2 (Protein XRP2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S15L (p.Ser15Leu) variant details
- p.Ser15Leu
- rs1556313479
- ClinGen CA413038235
- NCI-TCGA Cosmic COSV5446
- ClinVar RCV001321622
- Uncertain significance
- Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.14
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (Retinal dystrophy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available