H33D (p.His33Asp) variant of KCNA1 (Q09470)
H33D (p.His33Asp) in KCNA1 (Q09470) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
H33D (p.His33Asp) variant details
- p.His33Asp
- gnomAD rs1947351157
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.53
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available