C3S (p.Cys3Ser) variant of RP2 (Protein XRP2)
C3S (p.Cys3Ser) in RP2 (Protein XRP2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinal dystrophy; not provided; Retinitis pigmentosa 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
C3S (p.Cys3Ser) variant details
- p.Cys3Ser
- rs782344765
- ClinGen CA10394159
- ClinVar RCV000479201
- ClinVar RCV002470866
- Conflicting interpretations
- Retinal dystrophy; not provided; Retinitis pigmentosa 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.86
- CADD 26.20
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Retinal dystrophy; not provided; Retinitis pigmentosa 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)