F4C (p.Phe4Cys) variant of RP2 (Protein XRP2)
F4C (p.Phe4Cys) 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 provided; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
F4C (p.Phe4Cys) variant details
- p.Phe4Cys
- rs782190396
- ClinGen CA10394160
- ClinVar RCV001168266
- ClinVar RCV001522598
- Conflicting interpretations
- not provided; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.23
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Conflicting classifications of pathogenicity (not provided; Retinitis pigmentosa)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)