P81S (p.Pro81Ser) variant of NOTCH3 (Q9UM47)
P81S (p.Pro81Ser) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
P81S (p.Pro81Ser) variant details
- p.Pro81Ser
- ExAC rs769161256
- gnomAD rs769161256
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.65
- CADD 23.30
- PolyPhen-2 0.07
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available