A30V (p.Ala30Val) variant of RAD21 (O60216)
A30V (p.Ala30Val) in RAD21 (O60216) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- TOPMed rs1280565991
- gnomAD rs1280565991
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.29
- CADD 25.40
- PolyPhen-2 0.97
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)