T24I (p.Thr24Ile) variant of SMPD1 (Sphingomyelin phosphodiesterase)
T24I (p.Thr24Ile) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
T24I (p.Thr24Ile) variant details
- p.Thr24Ile
- gnomAD 11-6390669-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.14
- CADD 15.40
- PolyPhen-2 0.09
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available