V13A (p.Val13Ala) variant of MET (P08581)
V13A (p.Val13Ala) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V13A (p.Val13Ala) variant details
- p.Val13Ala
- rs748776466
- ClinGen CA4447935
- ClinVar RCV002366408
- ClinVar RCV003464459
- Uncertain significance
- Autosomal recessive nonsyndromic hearing loss 97; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.14
- MetaLR 0.32
- MetaSVM -0.61
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Autosomal recessive nonsyndromic hearing loss 97; Hereditary can)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)