K52Q (p.Lys52Gln) variant of NKX2-5 (Homeobox protein Nkx-2.5)
K52Q (p.Lys52Gln) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
K52Q (p.Lys52Gln) variant details
- p.Lys52Gln
- ExAC rs777670902
- gnomAD rs777670902
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.39
- CADD 27.80
- PolyPhen-2 0.52
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available