N40S (p.Asn40Ser) variant of ADD1 (Alpha-adducin)
N40S (p.Asn40Ser) 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 0.34 / 1. The record also includes structural context.
N40S (p.Asn40Ser) variant details
- p.Asn40Ser
- NCI-TCGA Cosmic COSV5327
- cosmic curated COSV53274
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 0.35
- MetaLR 0.17
- MetaSVM -0.88
- CADD 24.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available