H42H (p.His42His) variant of ATP1A2 (P50993)
H42H (p.His42His) in ATP1A2 (P50993) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
H42H (p.His42His) variant details
- p.His42His
- rs750571104
- gnomAD 1-160121200-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 11.20
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available