K29Q (p.Lys29Gln) variant of EGFR (Epidermal growth factor receptor)
K29Q (p.Lys29Gln) in EGFR (Epidermal growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
K29Q (p.Lys29Gln) variant details
- p.Lys29Gln
- gnomAD 7-55019362-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.15
- MetaLR 0.33
- MetaSVM -0.80
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available