H30N (p.His30Asn) variant of KCNA1 (Q09470)
H30N (p.His30Asn) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
H30N (p.His30Asn) variant details
- p.His30Asn
- TOPMed rs1947351077
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.23
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available