A62V (p.Ala62Val) variant of ZFHX3 (Zinc finger homeobox protein 3)
A62V (p.Ala62Val) in ZFHX3 (Zinc finger homeobox protein 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of ZFHX3-related disorder. The record also includes variant effect predictions and population frequency data.
A62V (p.Ala62Val) variant details
- p.Ala62Val
- rs62639999
- ClinGen CA8165088
- cosmic curated COSV51738
- ClinVar RCV003979506
- Benign
- ZFHX3-related disorder
- Missense
- REVEL 0.13
- CADD 10.80
- PolyPhen-2 0.02
- SIFT 0.12
- ClinVar: Benign (ZFHX3-related disorder)
- EBI: Benign
- UniProt: Benign
- Population evidence available