P14L (p.Pro14Leu) variant of NOTCH3 (Q9UM47)
P14L (p.Pro14Leu) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- Ensembl rs2145457718
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.25
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the South Asian population (allele frequency 6.8e-05)
- Structural context available