I152V (p.Ile152Val) variant of RAD21 (O60216)
I152V (p.Ile152Val) 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 0.28 / 1. The record also includes population frequency data.
I152V (p.Ile152Val) variant details
- p.Ile152Val
- rs897373910
- TOPMed rs897373910
- gnomAD rs897373910
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.04
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.67
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)