D114N (p.Asp114Asn) variant of ATP1A3 (P13637)
D114N (p.Asp114Asn) in ATP1A3 (P13637) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
D114N (p.Asp114Asn) variant details
- p.Asp114Asn
- rs782128088
- cosmic curated COSV10942
- ExAC rs782128088
- gnomAD rs782128088
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.25
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available