p.Ala42 Leu43insProAla variant of SMPD1 (Sphingomyelin phosphodiesterase)
p.Ala42 Leu43insProAla in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala42 Leu43insProAla variant details
- rs1458099873
- gnomAD 11-6390720-T-TGGC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.525
- CADD 13.60
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available