L31L (p.Leu31Leu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L31L (p.Leu31Leu) in SMPD1 (Sphingomyelin phosphodiesterase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L31L (p.Leu31Leu) variant details
- p.Leu31Leu
- rs2134005000
- gnomAD 11-6390691-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.149
- CADD 9.69
- Population evidence available
- Structural context available
- Literature evidence available