D16V (p.Asp16Val) variant of RNF207 (RING finger protein 207)
D16V (p.Asp16Val) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D16V (p.Asp16Val) variant details
- p.Asp16Val
- gnomAD 1-6206582-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.25
- CADD 22.70
- PolyPhen-2 0.19
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available