A38S (p.Ala38Ser) variant of NOTCH3 (Q9UM47)
A38S (p.Ala38Ser) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A38S (p.Ala38Ser) variant details
- p.Ala38Ser
- rs752064930
- ClinGen CA404483487
- ClinVar RCV003880537
- ExAC rs752064930
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.32
- CADD 21.70
- PolyPhen-2 0.53
- SIFT 0.64
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 4.5e-05)
- Structural context available