C36R (p.Cys36Arg) variant of RNF207 (RING finger protein 207)
C36R (p.Cys36Arg) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
C36R (p.Cys36Arg) variant details
- p.Cys36Arg
- ExAC rs779124390
- gnomAD rs779124390
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.72
- CADD 26.10
- PolyPhen-2 0.53
- SIFT 0.10
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available