P15S (p.Pro15Ser) variant of KRT12 (Keratin, type I cytoskeletal 12)
P15S (p.Pro15Ser) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; Corneal dystrophy, Meesmann, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P15S (p.Pro15Ser) variant details
- p.Pro15Ser
- rs11650915
- ClinGen CA216518
- ClinVar RCV000056428
- ClinVar RCV001730494
- Benign
- not provided; Corneal dystrophy, Meesmann, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.0874
- REVEL 0.09
- CADD 0.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign (not provided; Corneal dystrophy, Meesmann, 1)
- EBI: Benign (in dbSNP:rs11650915)
- UniProt: Benign (in dbSNP:rs11650915)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family. (PMID 18245975)
- Cited in: Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a… (PMID 20577595)