T78M (p.Thr78Met) variant of PHF6 (PHD finger protein 6)
T78M (p.Thr78Met) in PHF6 (PHD finger protein 6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Borjeson-Forssman-Lehmann syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T78M (p.Thr78Met) variant details
- p.Thr78Met
- rs767406620
- ClinGen CA10521165
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10013
- Uncertain significance
- Borjeson-Forssman-Lehmann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.21
- CADD 22.60
- PolyPhen-2 0.78
- SIFT 0.11
- ClinVar: Uncertain significance (Borjeson-Forssman-Lehmann syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00039)
- Structural context available