L43Q (p.Leu43Gln) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L43Q (p.Leu43Gln) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L43Q (p.Leu43Gln) variant details
- p.Leu43Gln
- gnomAD 11-6390726-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.06
- CADD 22.70
- PolyPhen-2 0.92
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available