V30M (p.Val30Met) variant of RNF207 (RING finger protein 207)
V30M (p.Val30Met) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
V30M (p.Val30Met) variant details
- p.Val30Met
- ExAC rs767540321
- TOPMed rs767540321
- gnomAD rs767540321
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.28
- CADD 21.90
- PolyPhen-2 0.38
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available