P2S (p.Pro2Ser) variant of SMPD1 (Sphingomyelin phosphodiesterase)
P2S (p.Pro2Ser) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P2S (p.Pro2Ser) variant details
- p.Pro2Ser
- NCI-TCGA Cosmic COSV5497
- cosmic curated COSV54970
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.11
- CADD 16.90
- PolyPhen-2 0.03
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available