A71T (p.Ala71Thr) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A71T (p.Ala71Thr) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A71T (p.Ala71Thr) variant details
- p.Ala71Thr
- rs772542981
- ExAC rs772542981
- gnomAD rs772542981
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.15
- CADD 15.60
- PolyPhen-2 0.02
- SIFT 0.55
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available