p.Leu37 Ala40delinsPro variant of SMPD1 (Sphingomyelin phosphodiesterase)
p.Leu37 Ala40delinsPro in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu37 Ala40delinsPro variant details
- rs767338533
- gnomAD 11-6390707-CTGGCG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.283
- CADD 15.10
- Most common in the Latino/Admixed American population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available