P17S (p.Pro17Ser) variant of RP2 (Protein XRP2)
P17S (p.Pro17Ser) in RP2 (Protein XRP2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Retinitis pigmentosa 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P17S (p.Pro17Ser) variant details
- p.Pro17Ser
- rs782103396
- ClinGen CA10394163
- ClinVar RCV000787703
- ClinVar RCV001797794
- Conflicting interpretations
- not specified; not provided; Retinitis pigmentosa 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.24
- CADD 1.21
- PolyPhen-2 0.00
- SIFT 0.66
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Retinitis pigmentosa 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)