P2L (p.Pro2Leu) variant of NOTCH2 (Q04721)
P2L (p.Pro2Leu) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- TOPMed rs1336639565
- gnomAD rs1336639565
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.43
- CADD 26.50
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available