L4P (p.Leu4Pro) variant of ETFB (P38117)
L4P (p.Leu4Pro) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- Ensembl rs2123621082
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.72
- CADD 32.00
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available