D26N (p.Asp26Asn) variant of ADD1 (Alpha-adducin)
D26N (p.Asp26Asn) in ADD1 (Alpha-adducin) 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 0.50 / 1. The record also includes population frequency data and structural context.
D26N (p.Asp26Asn) variant details
- p.Asp26Asn
- rs370911124
- cosmic curated COSV99297
- ESP rs370911124
- ExAC rs370911124
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.28
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.21
- MetaSVM -0.59
- CADD 31.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available