Q23H (p.Gln23His) variant of NKX2-5 (Homeobox protein Nkx-2.5)
Q23H (p.Gln23His) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Q23H (p.Gln23His) variant details
- p.Gln23His
- gnomAD rs1761443946
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.20
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available