A94T (p.Ala94Thr) variant of KRT14 (Keratin, type I cytoskeletal 14)
A94T (p.Ala94Thr) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A94T (p.Ala94Thr) variant details
- p.Ala94Thr
- rs3826550
- ClinGen CA216890
- ClinVar RCV000056702
- ClinVar RCV000248897
- Benign
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.32
- CADD 12.30
- PolyPhen-2 0.08
- SIFT 0.39
- ClinVar: Benign (not specified; not provided)
- EBI: Benign (in dbSNP:rs3826550)
- UniProt: Benign (in dbSNP:rs3826550)
- Most common in the HGDP:BEDOUIN population (allele frequency 0.61)
- Structural context available
- Cited in: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID 15489334)
- Cited in: Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis… (PMID 9989794)