K69E (p.Lys69Glu) variant of ETFA (P13804)
K69E (p.Lys69Glu) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
K69E (p.Lys69Glu) variant details
- p.Lys69Glu
- ExAC rs746570363
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 23.70
- PolyPhen-2 0.07
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.4e-05)
- Structural context available