Q71R (p.Gln71Arg) variant of PHF6 (PHD finger protein 6)
Q71R (p.Gln71Arg) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Q71R (p.Gln71Arg) variant details
- p.Gln71Arg
- 1000Genomes rs200498373
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.13
- CADD 18.60
- PolyPhen-2 0.14
- SIFT 0.19
- Most common in the 1KG:CHB population (allele frequency 0.0063)
- Structural context available