V30L (p.Val30Leu) variant of RNF207 (RING finger protein 207)
V30L (p.Val30Leu) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
V30L (p.Val30Leu) variant details
- p.Val30Leu
- ExAC rs767540321
- TOPMed rs767540321
- gnomAD rs767540321
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.21
- CADD 16.70
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available