N238S (p.Asn238Ser) variant of ATP1A3 (P13637)
N238S (p.Asn238Ser) 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 0.61 / 1. The record also includes population frequency data and structural context.
N238S (p.Asn238Ser) variant details
- p.Asn238Ser
- rs782467046
- NCI-TCGA Cosmic COSV5748
- cosmic curated COSV57486
- ExAC rs782467046
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- CADD 22.40
- PolyPhen-2 0.85
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available