S19A (p.Ser19Ala) variant of PCDH15 (Protocadherin-15)
S19A (p.Ser19Ala) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified; not provided; Usher syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and published literature.
S19A (p.Ser19Ala) variant details
- p.Ser19Ala
- rs11004439
- ClinGen CA138481
- cosmic curated COSV57279
- ClinVar RCV000039763
- Likely benign
- not specified; not provided; Usher syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- MetaLR 0.00
- MetaSVM -1.05
- CADD 0.69
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Likely benign (not provided)
- EBI: Benign (in dbSNP:rs11004439)
- UniProt: Benign (in dbSNP:rs11004439)
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 0.5)
- Cited in: Protocadherin 15 (PCDH15): a new secreted isoform and a potential marker for NK/T cell lymphomas. (PMID 16369489)
- Cited in: Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I. (PMID 22815625)