Q24R (p.Gln24Arg) variant of NKX2-5 (Homeobox protein Nkx-2.5)
Q24R (p.Gln24Arg) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q24R (p.Gln24Arg) variant details
- p.Gln24Arg
- ExAC rs751398261
- TOPMed rs751398261
- gnomAD rs751398261
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.34
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available