M1T (p.Met1Thr) variant of PHF6 (PHD finger protein 6)
M1T (p.Met1Thr) in PHF6 (PHD finger protein 6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Borjeson-Forssman-Lehmann syndrome; Hereditary spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs132630300
- ClinGen CA121334
- ClinVar RCV000011817
- ClinVar RCV002286694
- Pathogenic
- not provided; Borjeson-Forssman-Lehmann syndrome; Hereditary spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- MetaLR 0.82
- MetaSVM 0.81
- PolyPhen-2 0.93
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic (not provided; Borjeson-Forssman-Lehmann syndrome; Hereditary spa)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. (PMID 12415272)
- Cited in: Spastic Paraplegia 4. (PMID 20301339)