Q10H (p.Gln10His) variant of SMPD1 (Sphingomyelin phosphodiesterase)
Q10H (p.Gln10His) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Q10H (p.Gln10His) variant details
- p.Gln10His
- gnomAD 11-6390628-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.01
- CADD 2.66
- PolyPhen-2 0.02
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available