R100H (p.Arg100His) variant of PRMT5 (O14744)
R100H (p.Arg100His) 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 0.80 / 1. The record also includes population frequency data and structural context.
R100H (p.Arg100His) variant details
- p.Arg100His
- rs766424540
- NCI-TCGA Cosmic COSV9936
- cosmic curated COSV99362
- ExAC rs766424540
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.80
- CADD 29.50
- PolyPhen-2 0.51
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available