V32L (p.Val32Leu) variant of RAD21 (O60216)
V32L (p.Val32Leu) in RAD21 (O60216) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
V32L (p.Val32Leu) variant details
- p.Val32Leu
- gnomAD rs1812699937
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.34
- CADD 25.80
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available