L79Q (p.Leu79Gln) variant of ETFB (P38117)
L79Q (p.Leu79Gln) in ETFB (P38117) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
L79Q (p.Leu79Gln) variant details
- p.Leu79Gln
- rs770665020
- ClinGen CA312508
- ClinVar RCV000185881
- ExAC rs770665020
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- AlphaMissense 0.91
- MetaLR 0.90
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available