R100C (p.Arg100Cys) variant of PRMT5 (O14744)
R100C (p.Arg100Cys) 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 0.58 / 1. The record also includes population frequency data and structural context.
R100C (p.Arg100Cys) variant details
- p.Arg100Cys
- rs774444973
- NCI-TCGA Cosmic COSV5354
- cosmic curated COSV53546
- ExAC rs774444973
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.46
- CADD 26.30
- PolyPhen-2 0.01
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available