D101N (p.Asp101Asn) variant of NKX2-5 (Homeobox protein Nkx-2.5)
D101N (p.Asp101Asn) 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 0.49 / 1. The record also includes population frequency data and structural context.
D101N (p.Asp101Asn) variant details
- p.Asp101Asn
- rs1365219269
- NCI-TCGA Cosmic COSV6129
- cosmic curated COSV61298
- TOPMed rs1365219269
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.31
- CADD 23.20
- PolyPhen-2 0.11
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available