L30V (p.Leu30Val) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L30V (p.Leu30Val) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L30V (p.Leu30Val) variant details
- p.Leu30Val
- gnomAD 11-6390686-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.02
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available