P90T (p.Pro90Thr) variant of NKX2-5 (Homeobox protein Nkx-2.5)
P90T (p.Pro90Thr) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P90T (p.Pro90Thr) variant details
- p.Pro90Thr
- cosmic curated COSV10023
- gnomAD rs1307727464
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.22
- CADD 19.40
- PolyPhen-2 0.10
- SIFT 0.13
- Population evidence available
- Structural context available