A42V (p.Ala42Val) variant of KRT16 (Keratin, type I cytoskeletal 16)
A42V (p.Ala42Val) in KRT16 (Keratin, type I cytoskeletal 16) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A42V (p.Ala42Val) variant details
- p.Ala42Val
- rs201289840
- ClinGen CA8563346
- ClinVar RCV003175874
- ESP rs201289840
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.26
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)