I62L (p.Ile62Leu) variant of ETFB (P38117)
I62L (p.Ile62Leu) in ETFB (P38117) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
I62L (p.Ile62Leu) variant details
- p.Ile62Leu
- ExAC rs199705168
- TOPMed rs199705168
- gnomAD rs199705168
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.25
- CADD 23.70
- PolyPhen-2 0.03
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available