G74D (p.Gly74Asp) variant of NKX2-5 (Homeobox protein Nkx-2.5)
G74D (p.Gly74Asp) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G74D (p.Gly74Asp) variant details
- p.Gly74Asp
- rs201362118
- UniProt VAR 069058
- 1000Genomes rs201362118
- ExAC rs201362118
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.37
- CADD 16.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID 14702039)