S47L (p.Ser47Leu) variant of ITGA6 (Integrin alpha-6)
S47L (p.Ser47Leu) in ITGA6 (Integrin alpha-6) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
S47L (p.Ser47Leu) variant details
- p.Ser47Leu
- rs1377038208
- ClinGen CA349291454
- ClinVar RCV002052423
- ClinVar RCV004798938
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Rapid decay of alpha6 integrin caused by a mis-sense mutation in the propeller domain results in severe junctional… (PMID 14675179)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)