K44K (p.Lys44Lys) variant of PHF6 (PHD finger protein 6)
K44K (p.Lys44Lys) in PHF6 (PHD finger protein 6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
K44K (p.Lys44Lys) variant details
- p.Lys44Lys
- rs759708359
- gnomAD X-134377749-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 10.00
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available
- Literature evidence available