R20C (p.Arg20Cys) variant of PDE6B (P35913)
R20C (p.Arg20Cys) in PDE6B (P35913) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R20C (p.Arg20Cys) variant details
- p.Arg20Cys
- rs558368752
- ClinGen CA2793833
- cosmic curated COSV55327
- ClinVar RCV001229038
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.15
- MetaLR 0.16
- MetaSVM -0.79
- CADD 21.10
- PolyPhen-2 0.28
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available