V145M (p.Val145Met) variant of ETFA (P13804)
V145M (p.Val145Met) in ETFA (P13804) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
V145M (p.Val145Met) variant details
- p.Val145Met
- gnomAD rs1260407620
- Conflicting interpretations
- Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 0.30
- CADD 27.20
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not specified)
- UniProt: Conflicting interpretations
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available