P106S (p.Pro106Ser) variant of NKX2-5 (Homeobox protein Nkx-2.5)
P106S (p.Pro106Ser) 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.
P106S (p.Pro106Ser) variant details
- p.Pro106Ser
- Ensembl rs1761429871
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.25
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.76
- Population evidence available
- Structural context available