E10K (p.Glu10Lys) variant of RNF207 (RING finger protein 207)
E10K (p.Glu10Lys) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- gnomAD 1-6206563-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.06
- CADD 24.10
- PolyPhen-2 0.16
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available