P131T (p.Pro131Thr) variant of KRT6A (Keratin, type II cytoskeletal 6A)
P131T (p.Pro131Thr) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P131T (p.Pro131Thr) variant details
- p.Pro131Thr
- rs1376577077
- ClinGen CA384964346
- ClinVar RCV002845329
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.45
- CADD 24.80
- PolyPhen-2 0.74
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)