M33L (p.Met33Leu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
M33L (p.Met33Leu) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
M33L (p.Met33Leu) variant details
- p.Met33Leu
- gnomAD 11-6390695-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0547
- REVEL 0.03
- CADD 4.18
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available