S16L (p.Ser16Leu) variant of NOTCH3 (Q9UM47)
S16L (p.Ser16Leu) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S16L (p.Ser16Leu) variant details
- p.Ser16Leu
- Ensembl rs2047007519
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.28
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.70
- Most common in the African/African-American population (allele frequency 0.00011)
- Structural context available