S79R (p.Ser79Arg) variant of KRT5 (Keratin, type II cytoskeletal 5)
S79R (p.Ser79Arg) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S79R (p.Ser79Arg) variant details
- p.Ser79Arg
- rs1065115
- ClinGen CA216699
- ClinVar RCV000056582
- UniProt VAR 028763
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.19
- CADD 9.48
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: not provided (not provided)
- UniProt: Not provided (in dbSNP:rs1065115)
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5. (PMID 10903910)
- Cited in: The sequence of the human epidermal 58-kD (#5) type II keratin reveals an absence of 5' upstream sequence conservation… (PMID 2456903)