I27V (p.Ile27Val) variant of VCP (P55072)
I27V (p.Ile27Val) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
I27V (p.Ile27Val) variant details
- p.Ile27Val
- rs140913250
- ClinGen CA5039558
- ClinVar RCV000390549
- ClinVar RCV000639655
- Benign/Likely benign
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.25
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.78
- ClinVar: Benign/Likely benign (Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ASW population (allele frequency 0.02)
- 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)