V143L (p.Val143Leu) variant of KRT12 (Keratin, type I cytoskeletal 12)
V143L (p.Val143Leu) in KRT12 (Keratin, type I cytoskeletal 12) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
V143L (p.Val143Leu) variant details
- p.Val143Leu
- rs58343600
- gnomAD rs58343600
- ClinGen CA216517
- ClinVar RCV000056427
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.89
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in MECD1)
- UniProt: Pathogenic (in MECD1)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family. (PMID 18245975)
- Cited in: Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. (PMID 9171831)