K38T (p.Lys38Thr) variant of PHF6 (PHD finger protein 6)
K38T (p.Lys38Thr) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
K38T (p.Lys38Thr) variant details
- p.Lys38Thr
- gnomAD X-134377730-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.58
- CADD 23.90
- PolyPhen-2 0.34
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available