V24G (p.Val24Gly) variant of NOTCH3 (Q9UM47)
V24G (p.Val24Gly) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V24G (p.Val24Gly) variant details
- p.Val24Gly
- TOPMed rs1387194156
- gnomAD rs1387194156
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.39
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 0.25
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available