S13L (p.Ser13Leu) variant of KCNA1 (Q09470)
S13L (p.Ser13Leu) in KCNA1 (Q09470) 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 0.48 / 1. The record also includes population frequency data and structural context.
S13L (p.Ser13Leu) variant details
- p.Ser13Leu
- rs1253210703
- ClinGen CA383453666
- NCI-TCGA Cosmic COSV6683
- ClinVar RCV001757559
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.30
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available