K21Q (p.Lys21Gln) variant of STXBP1 (Syntaxin-binding protein 1)
K21Q (p.Lys21Gln) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar 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 0.41 / 1. The record also includes population frequency data and structural context.
K21Q (p.Lys21Gln) variant details
- p.Lys21Gln
- TOPMed rs968835866
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.27
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available