P79S (p.Pro79Ser) variant of NKX2-5 (Homeobox protein Nkx-2.5)
P79S (p.Pro79Ser) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P79S (p.Pro79Ser) variant details
- p.Pro79Ser
- TOPMed rs1337440208
- gnomAD rs1337440208
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.28
- CADD 15.40
- PolyPhen-2 0.06
- SIFT 0.81
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available