p.Val36 Leu37insAlaLeuAlaLeuAlaL variant of SMPD1 (Sphingomyelin phosphodiesterase)
p.Val36 Leu37insAlaLeuAlaLeuAlaL in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
p.Val36 Leu37insAlaLeuAlaLeuAlaL variant details
- rs775568984
- gnomAD 11-6390705-T-TGGC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.251
- CADD 11.10
- Most common in the South Asian population (allele frequency 0.00011)
- Structural context available
- Literature evidence available