L154V (p.Leu154Val) variant of ETFA (P13804)
L154V (p.Leu154Val) in ETFA (P13804) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L154V (p.Leu154Val) variant details
- p.Leu154Val
- TOPMed rs930548270
- gnomAD rs930548270
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.10
- CADD 0.14
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the HGDP:DRUZE population (allele frequency 0.014)
- Structural context available