V184L (p.Val184Leu) variant of RAD21 (O60216)
V184L (p.Val184Leu) in RAD21 (O60216) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
V184L (p.Val184Leu) variant details
- p.Val184Leu
- ESP rs371214924
- ExAC rs371214924
- gnomAD rs371214924
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.05
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.66
- Most common in the African/African-American population (allele frequency 2.4e-05)