A5V (p.Ala5Val) variant of HSPG2 (P98160)
A5V (p.Ala5Val) in HSPG2 (P98160) is a missense change. The record also includes variant effect predictions and population frequency data.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- gnomAD rs1428357947
- Missense
- REVEL 0.25
- CADD 23.00
- PolyPhen-2 0.94
- SIFT 0.13
- Population evidence available