A6T (p.Ala6Thr) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A6T (p.Ala6Thr) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- gnomAD rs1357318633
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.02
- CADD 12.50
- PolyPhen-2 0.10
- SIFT 0.20
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available