P79A (p.Pro79Ala) variant of STXBP1 (Syntaxin-binding protein 1)
P79A (p.Pro79Ala) in STXBP1 (Syntaxin-binding protein 1) 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 0.86 / 1. The record also includes population frequency data and structural context.
P79A (p.Pro79Ala) variant details
- p.Pro79Ala
- rs1462181047
- NCI-TCGA Cosmic COSV6481
- cosmic curated COSV64812
- gnomAD rs1462181047
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.94
- CADD 24.60
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available