H21Q (p.His21Gln) variant of RNF207 (RING finger protein 207)
H21Q (p.His21Gln) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
H21Q (p.His21Gln) variant details
- p.His21Gln
- gnomAD 1-6206598-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.13
- CADD 23.90
- PolyPhen-2 0.92
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available