F87V (p.Phe87Val) variant of KRT5 (Keratin, type II cytoskeletal 5)
F87V (p.Phe87Val) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; Epidermolysis bullosa simplex. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
F87V (p.Phe87Val) variant details
- p.Phe87Val
- rs61747188
- ClinGen CA6582884
- ClinVar RCV000348479
- ClinVar RCV000957065
- Benign
- not provided; Epidermolysis bullosa simplex
- Missense
- Variant Prioritization Score for Impact Estimate 0.0969
- REVEL 0.03
- CADD 16.60
- PolyPhen-2 0.01
- SIFT 0.41
- ClinVar: Benign (not provided; Epidermolysis bullosa simplex)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MBUTI population (allele frequency 0.12)
- Structural context available
- Cited in: Epidermolysis Bullosa Simplex. (PMID 20301543)