V10D (p.Val10Asp) variant of STXBP1 (Syntaxin-binding protein 1)
V10D (p.Val10Asp) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes structural context.
V10D (p.Val10Asp) variant details
- p.Val10Asp
- rs1838430536
- ClinGen CA375173586
- ClinVar RCV001090603
- Ensembl rs1838430536
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- AlphaMissense 0.99
- MetaLR 0.57
- MetaSVM 0.06
- PolyPhen-2 0.95
- SIFT 0.00
- MutPred 0.74
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available