A55T (p.Ala55Thr) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A55T (p.Ala55Thr) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A55T (p.Ala55Thr) variant details
- p.Ala55Thr
- Ensembl rs567939950
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.20
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available