G62S (p.Gly62Ser) variant of NKX2-1 (Homeobox protein Nkx-2.1)
G62S (p.Gly62Ser) in NKX2-1 (Homeobox protein Nkx-2.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G62S (p.Gly62Ser) variant details
- p.Gly62Ser
- Ensembl rs2139412166
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.21
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.37
- Population evidence available
- Structural context available