T49A (p.Thr49Ala) variant of HSPG2 (P98160)
T49A (p.Thr49Ala) in HSPG2 (P98160) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
T49A (p.Thr49Ala) variant details
- p.Thr49Ala
- rs532110530
- ClinGen CA674015
- ClinVar RCV003112574
- 1000Genomes rs532110530
- Uncertain significance
- not provided
- Missense
- REVEL 0.05
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available