A6T (p.Ala6Thr) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A6T (p.Ala6Thr) 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.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- ExAC rs780812253
- gnomAD rs780812253
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.26
- CADD 20.40
- PolyPhen-2 0.12
- SIFT 0.15
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available