A51D (p.Ala51Asp) variant of PHF6 (PHD finger protein 6)
A51D (p.Ala51Asp) in PHF6 (PHD finger protein 6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
A51D (p.Ala51Asp) variant details
- p.Ala51Asp
- rs778511523
- ClinGen CA336026598
- ClinVar RCV001800019
- TOPMed rs778511523
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.51
- CADD 23.50
- PolyPhen-2 0.95
- SIFT 0.41
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available