V65M (p.Val65Met) variant of KRT4 (Keratin, type II cytoskeletal 4)
V65M (p.Val65Met) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of White sponge nevus 1; Inborn genetic diseases. 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.
V65M (p.Val65Met) variant details
- p.Val65Met
- rs754420448
- ClinGen CA6588827
- ClinVar RCV001110877
- ClinVar RCV002558110
- Conflicting interpretations
- White sponge nevus 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.12
- CADD 3.93
- PolyPhen-2 0.05
- SIFT 0.28
- ClinVar: Conflicting classifications of pathogenicity (White sponge nevus 1; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)