F102L (p.Phe102Leu) variant of KRT16 (Keratin, type I cytoskeletal 16)
F102L (p.Phe102Leu) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
F102L (p.Phe102Leu) variant details
- p.Phe102Leu
- rs151282702
- ClinGen CA8563295
- ClinVar RCV001399279
- ClinVar RCV002552710
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.15
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)