T105A (p.Thr105Ala) variant of PKD1 (Polycystin-1)
T105A (p.Thr105Ala) in PKD1 (Polycystin-1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
T105A (p.Thr105Ala) variant details
- p.Thr105Ala
- 1000Genomes rs200420603
- ExAC rs200420603
- TOPMed rs200420603
- gnomAD rs200420603
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.12
- MetaLR 0.12
- MetaSVM -1.00
- CADD 18.30
- PolyPhen-2 0.18
- SIFT 0.07
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available