P6A (p.Pro6Ala) variant of NOTCH2 (Q04721)
P6A (p.Pro6Ala) in NOTCH2 (Q04721) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P6A (p.Pro6Ala) variant details
- p.Pro6Ala
- ExAC rs781993162
- TOPMed rs781993162
- gnomAD rs781993162
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.25
- CADD 22.80
- PolyPhen-2 0.81
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available