L14Q (p.Leu14Gln) variant of EGFR (Epidermal growth factor receptor)
L14Q (p.Leu14Gln) in EGFR (Epidermal growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L14Q (p.Leu14Gln) variant details
- p.Leu14Gln
- Ensembl rs2128853404
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.62
- MetaLR 0.53
- MetaSVM -0.23
- CADD 23.40
- PolyPhen-2 0.37
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available