A88T (p.Ala88Thr) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A88T (p.Ala88Thr) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A88T (p.Ala88Thr) variant details
- p.Ala88Thr
- gnomAD rs1206097183
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.22
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.39
- Population evidence available
- Structural context available