A91P (p.Ala91Pro) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A91P (p.Ala91Pro) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A91P (p.Ala91Pro) variant details
- p.Ala91Pro
- gnomAD rs1314752131
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.34
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.26
- Population evidence available
- Structural context available