G295R (p.Gly295Arg) variant of TARDBP (TAR DNA-binding protein 43)
G295R (p.Gly295Arg) in TARDBP (TAR DNA-binding protein 43) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of not provided; FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
G295R (p.Gly295Arg) variant details
- p.Gly295Arg
- rs80356723
- Conflicting interpretations
- not provided; FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RE
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- AlphaMissense 0.81
- MetaLR 0.64
- MetaSVM 0.12
- PolyPhen-2 0.73
- SIFT 0.02
- EVE 0.19
- ClinVar: Conflicting classifications of pathogenicity (not provided; FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLU)
- UniProt: Conflicting interpretations (in ALS10)
- Structural context available
- Cited in: TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia. (PMID 20301761)
- Cited in: TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. (PMID 19350673)