P69L (p.Pro69Leu) variant of NOTCH3 (Q9UM47)
P69L (p.Pro69Leu) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P69L (p.Pro69Leu) variant details
- p.Pro69Leu
- gnomAD rs2046938354
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.43
- CADD 21.40
- PolyPhen-2 0.02
- SIFT 0.43
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available