S4N (p.Ser4Asn) variant of NKX2-5 (Homeobox protein Nkx-2.5)
S4N (p.Ser4Asn) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
S4N (p.Ser4Asn) variant details
- p.Ser4Asn
- TOPMed rs1341734909
- gnomAD rs1341734909
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.58
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available