M15V (p.Met15Val) variant of NOTCH3 (Q9UM47)
M15V (p.Met15Val) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
M15V (p.Met15Val) variant details
- p.Met15Val
- Ensembl rs2145457710
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.30
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.51
- Population evidence available
- Structural context available