S78P (p.Ser78Pro) variant of NKX2-5 (Homeobox protein Nkx-2.5)
S78P (p.Ser78Pro) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S78P (p.Ser78Pro) variant details
- p.Ser78Pro
- ExAC rs749763672
- TOPMed rs749763672
- gnomAD rs749763672
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.27
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available