H29Q (p.His29Gln) variant of RNF207 (RING finger protein 207)
H29Q (p.His29Gln) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
H29Q (p.His29Gln) variant details
- p.His29Gln
- gnomAD 1-6206622-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.31
- CADD 22.40
- PolyPhen-2 0.16
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available