R14T (p.Arg14Thr) variant of SMPD1 (Sphingomyelin phosphodiesterase)
R14T (p.Arg14Thr) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R14T (p.Arg14Thr) variant details
- p.Arg14Thr
- gnomAD 11-6390639-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.04
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available