G40D (p.Gly40Asp) variant of RNF215 (RING finger protein 215)
G40D (p.Gly40Asp) in RNF215 (RING finger protein 215) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
G40D (p.Gly40Asp) variant details
- p.Gly40Asp
- gnomAD 22-30374670-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- CADD 6.34
- SIFT 0.00
- Most common in the HGDP:PATHAN population (allele frequency 0.083)
- Structural context available
- Literature evidence available