A6G (p.Ala6Gly) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A6G (p.Ala6Gly) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A6G (p.Ala6Gly) variant details
- p.Ala6Gly
- Ensembl rs1561621781
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.21
- CADD 22.50
- PolyPhen-2 0.16
- SIFT 0.13
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available