R13C (p.Arg13Cys) variant of PRMT5 (O14744)
R13C (p.Arg13Cys) in PRMT5 (O14744) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R13C (p.Arg13Cys) variant details
- p.Arg13Cys
- TOPMed rs914021170
- gnomAD rs914021170
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.66
- CADD 33.00
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available