A176V (p.Ala176Val) variant of RAD21 (O60216)
A176V (p.Ala176Val) in RAD21 (O60216) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
A176V (p.Ala176Val) variant details
- p.Ala176Val
- TOPMed rs1324728772
- gnomAD rs1324728772
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.13
- CADD 22.70
- Most common in the African/African-American population (allele frequency 2.4e-05)