H44N (p.His44Asn) variant of ATP1A1 (P05023)
H44N (p.His44Asn) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
H44N (p.His44Asn) variant details
- p.His44Asn
- gnomAD 1-116384789-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.81
- CADD 26.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the 1KG:CHS population (allele frequency 0.0098)
- Structural context available
- Literature evidence available