L32V (p.Leu32Val) variant of NOTCH1 (P46531)
L32V (p.Leu32Val) in NOTCH1 (P46531) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
L32V (p.Leu32Val) variant details
- p.Leu32Val
- ESP rs367858719
- ExAC rs367858719
- TOPMed rs367858719
- gnomAD rs367858719
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- CADD 4.91
- PolyPhen-2 0.10
- SIFT 0.48
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available