R91H (p.Arg91His) variant of PRMT5 (O14744)
R91H (p.Arg91His) 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 0.19 / 1. The record also includes population frequency data and structural context.
R91H (p.Arg91His) variant details
- p.Arg91His
- rs757013591
- NCI-TCGA Cosmic COSV5354
- cosmic curated COSV53545
- ExAC rs757013591
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.02
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available