S19T (p.Ser19Thr) variant of PCDH15 (Protocadherin-15)
S19T (p.Ser19Thr) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
S19T (p.Ser19Thr) variant details
- p.Ser19Thr
- rs11004439
- ClinGen CA5506901
- ClinVar RCV003104655
- 1000Genomes rs11004439
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- MetaLR 0.08
- MetaSVM -1.00
- CADD 0.35
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Benign (not provided)
- EBI: Benign (in dbSNP:rs11004439)
- UniProt: Benign (in dbSNP:rs11004439)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)