S43G (p.Ser43Gly) variant of RP2 (Protein XRP2)
S43G (p.Ser43Gly) 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; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S43G (p.Ser43Gly) variant details
- p.Ser43Gly
- rs201111874
- ClinGen CA10394184
- ClinVar RCV001201464
- ClinVar RCV003890343
- Uncertain significance
- not provided; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.34
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Uncertain significance (not provided; Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available