D23N (p.Asp23Asn) variant of MAX (Protein max)
D23N (p.Asp23Asn) in MAX (Protein max) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary pheochromocytoma and paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
D23N (p.Asp23Asn) variant details
- p.Asp23Asn
- rs2139887316
- UniProt VAR 079348
- Ensembl rs2139887316
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.52
- CADD 23.10
- PolyPhen-2 0.13
- SIFT 0.18
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma)
- EBI: Variant of uncertain significance (in PCC)
- UniProt: Uncertain significance (in PCC)
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Cited in: Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. (PMID 21685915)
- Cited in: Functional and in silico assessment of MAX variants of unknown significance. (PMID 26070438)