D99N (p.Asp99Asn) variant of NKX2-5 (Homeobox protein Nkx-2.5)
D99N (p.Asp99Asn) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
D99N (p.Asp99Asn) variant details
- p.Asp99Asn
- NCI-TCGA Cosmic COSV6129
- cosmic curated COSV61298
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.26
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available