R154W (p.Arg154Trp) variant of PRMT5 (O14744)
R154W (p.Arg154Trp) in PRMT5 (O14744) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R154W (p.Arg154Trp) variant details
- p.Arg154Trp
- rs373936905
- cosmic curated COSV10457
- ESP rs373936905
- ExAC rs373936905
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.30
- CADD 29.90
- PolyPhen-2 0.69
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available