A26S (p.Ala26Ser) variant of NOTCH3 (Q9UM47)
A26S (p.Ala26Ser) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A26S (p.Ala26Ser) variant details
- p.Ala26Ser
- gnomAD rs1403142128
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.28
- CADD 4.09
- PolyPhen-2 0.01
- SIFT 0.90
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available