A83V (p.Ala83Val) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A83V (p.Ala83Val) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A83V (p.Ala83Val) variant details
- p.Ala83Val
- rs1182777346
- NCI-TCGA Cosmic COSV6129
- cosmic curated COSV61298
- ClinGen CA362163398
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.28
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available