G26A (p.Gly26Ala) variant of SMPD1 (Sphingomyelin phosphodiesterase)
G26A (p.Gly26Ala) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G26A (p.Gly26Ala) variant details
- p.Gly26Ala
- gnomAD 11-6390675-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.04
- CADD 10.50
- PolyPhen-2 0.14
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available