T12I (p.Thr12Ile) variant of PHF6 (PHD finger protein 6)
T12I (p.Thr12Ile) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T12I (p.Thr12Ile) variant details
- p.Thr12Ile
- gnomAD X-134377652-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.22
- CADD 20.80
- PolyPhen-2 0.02
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available