P2A (p.Pro2Ala) variant of NOTCH1 (P46531)
P2A (p.Pro2Ala) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Adams-Oliver syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P2A (p.Pro2Ala) variant details
- p.Pro2Ala
- rs975429231
- ClinGen CA201608708
- ClinVar RCV000693595
- TOPMed rs975429231
- Benign
- Adams-Oliver syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Benign (Adams-Oliver syndrome 5)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available