R34C (p.Arg34Cys) variant of RNF207 (RING finger protein 207)
R34C (p.Arg34Cys) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R34C (p.Arg34Cys) variant details
- p.Arg34Cys
- gnomAD 1-6206635-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.23
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available