A35V (p.Ala35Val) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A35V (p.Ala35Val) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A35V (p.Ala35Val) variant details
- p.Ala35Val
- ExAC rs768386936
- TOPMed rs768386936
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.23
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available