A81V (p.Ala81Val) variant of NOTCH2 (Q04721)
A81V (p.Ala81Val) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A81V (p.Ala81Val) variant details
- p.Ala81Val
- cosmic curated COSV10456
- gnomAD rs1553206159
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.17
- CADD 22.50
- PolyPhen-2 0.98
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available