L8V (p.Leu8Val) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L8V (p.Leu8Val) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
L8V (p.Leu8Val) variant details
- p.Leu8Val
- gnomAD 11-6390620-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0423
- REVEL 0.01
- CADD 4.62
- PolyPhen-2 0.02
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available