T34I (p.Thr34Ile) variant of PARK7 (Parkinson disease protein 7)
T34I (p.Thr34Ile) in PARK7 (Parkinson disease protein 7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive early-onset Parkinson disease 7; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T34I (p.Thr34Ile) variant details
- p.Thr34Ile
- rs772272696
- ClinGen CA569442
- ClinVar RCV000993895
- ClinVar RCV001097594
- Uncertain significance
- Autosomal recessive early-onset Parkinson disease 7; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.25
- CADD 17.20
- PolyPhen-2 0.41
- SIFT 0.06
- ClinVar: Uncertain significance (Autosomal recessive early-onset Parkinson disease 7; not provide)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00062)
- Structural context available
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. (PMID 23279440)