P2T (p.Pro2Thr) variant of SMPD1 (Sphingomyelin phosphodiesterase)
P2T (p.Pro2Thr) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P2T (p.Pro2Thr) variant details
- p.Pro2Thr
- gnomAD 11-6390602-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.12
- CADD 12.90
- PolyPhen-2 0.03
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available