P11L (p.Pro11Leu) variant of PHF6 (PHD finger protein 6)
P11L (p.Pro11Leu) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P11L (p.Pro11Leu) variant details
- p.Pro11Leu
- gnomAD X-134377649-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.29
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available