T12A (p.Thr12Ala) variant of PHF6 (PHD finger protein 6)
T12A (p.Thr12Ala) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T12A (p.Thr12Ala) variant details
- p.Thr12Ala
- ESP rs371190526
- TOPMed rs371190526
- gnomAD rs371190526
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.26
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.87
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available