I114V (p.Ile114Val) variant of VCP (P55072)
I114V (p.Ile114Val) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
I114V (p.Ile114Val) variant details
- p.Ile114Val
- rs549915384
- ClinGen CA5039496
- ClinVar RCV000733637
- ClinVar RCV000801185
- Conflicting interpretations
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.39
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Amish population (allele frequency 0.0088)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)