A5T (p.Ala5Thr) variant of MET (P08581)
A5T (p.Ala5Thr) in MET (P08581) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Renal cell carcinoma; Autosomal recessive nonsyndromic hearing loss 97; Heredita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- rs765444467
- ClinGen CA4447929
- cosmic curated COSV10462
- ClinVar RCV000529240
- Conflicting interpretations
- Renal cell carcinoma; Autosomal recessive nonsyndromic hearing loss 97; Heredita
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.02
- MetaLR 0.14
- MetaSVM -1.06
- CADD 2.23
- PolyPhen-2 0.01
- SIFT 0.72
- ClinVar: Conflicting classifications of pathogenicity (Renal cell carcinoma; Autosomal recessive nonsyndromic hearing l)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.3e-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)