M35I (p.Met35Ile) variant of MET (P08581)
M35I (p.Met35Ile) in MET (P08581) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive nonsyndromic hearing loss 97; Hereditary cancer-predisposing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
M35I (p.Met35Ile) variant details
- p.Met35Ile
- rs376244358
- ClinGen CA368968350
- ClinVar RCV001899325
- ESP rs376244358
- Uncertain significance
- Autosomal recessive nonsyndromic hearing loss 97; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.12
- MetaLR 0.31
- MetaSVM -0.35
- CADD 20.30
- PolyPhen-2 0.16
- SIFT 0.08
- ClinVar: Uncertain significance (Autosomal recessive nonsyndromic hearing loss 97; Hereditary can)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)