V41M (p.Val41Met) variant of RAD21 (O60216)
V41M (p.Val41Met) in RAD21 (O60216) 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 0.61 / 1. The record also includes population frequency data.
V41M (p.Val41Met) variant details
- p.Val41Met
- NCI-TCGA Cosmic COSV5205
- Ensembl rs769975600
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.54
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)