A40V (p.Ala40Val) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A40V (p.Ala40Val) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- cosmic curated COSV54970
- ESP rs377374691
- gnomAD rs377374691
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.01
- CADD 12.00
- PolyPhen-2 0.01
- SIFT 0.57
- Most common in the Latino/Admixed American population (allele frequency 0.00012)
- Structural context available