S22I (p.Ser22Ile) variant of MET (P08581)
S22I (p.Ser22Ile) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S22I (p.Ser22Ile) variant details
- p.Ser22Ile
- rs587780739
- ClinGen CA332689
- cosmic curated COSV10057
- ClinVar RCV000123130
- Conflicting interpretations
- Renal cell carcinoma; Autosomal recessive nonsyndromic hearing loss 97; Heredita
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.14
- MetaLR 0.38
- MetaSVM -0.25
- CADD 22.00
- PolyPhen-2 0.33
- SIFT 0.23
- ClinVar: Conflicting classifications of pathogenicity (Renal cell carcinoma; Autosomal recessive nonsyndromic hearing l)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- 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)