G5V (p.Gly5Val) variant of SMPD1 (Sphingomyelin phosphodiesterase)
G5V (p.Gly5Val) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- gnomAD 11-6390612-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.06
- CADD 21.60
- PolyPhen-2 0.47
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available