P20A (p.Pro20Ala) variant of NOTCH3 (Q9UM47)
P20A (p.Pro20Ala) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P20A (p.Pro20Ala) variant details
- p.Pro20Ala
- 1000Genomes rs2145457639
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.45
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.61
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available