P102Q (p.Pro102Gln) variant of NKX2-5 (Homeobox protein Nkx-2.5)
P102Q (p.Pro102Gln) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P102Q (p.Pro102Gln) variant details
- p.Pro102Gln
- Ensembl rs1761430319
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.18
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.60
- Population evidence available
- Structural context available