T54N (p.Thr54Asn) variant of KCNA1 (Q09470)
T54N (p.Thr54Asn) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
T54N (p.Thr54Asn) variant details
- p.Thr54Asn
- TOPMed rs1200027756
- gnomAD rs1200027756
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.86
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available