L79P (p.Leu79Pro) variant of ETFB (P38117)
L79P (p.Leu79Pro) in ETFB (P38117) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
L79P (p.Leu79Pro) variant details
- p.Leu79Pro
- rs770665020
- ClinGen CA9610814
- ClinVar RCV000996997
- ExAC rs770665020
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.96
- AlphaMissense 0.91
- MetaLR 0.90
- MetaSVM 1.04
- CADD 27.80
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available