V237L (p.Val237Leu) variant of NOTCH3 (Q9UM47)
V237L (p.Val237Leu) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Auditory neuropathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes structural context.
V237L (p.Val237Leu) variant details
- p.Val237Leu
- rs2285981
- ClinGen CA404532798
- ClinVar RCV003484484
- 1000Genomes rs2285981
- Likely pathogenic
- Auditory neuropathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- AlphaMissense 0.17
- MetaLR 0.84
- MetaSVM 0.72
- PolyPhen-2 0.82
- SIFT 0.01
- MutPred 0.63
- ClinVar: Likely pathogenic (Auditory neuropathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available