M1V (p.Met1Val) variant of HSPG2 (P98160)
M1V (p.Met1Val) in HSPG2 (P98160) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Schwartz-Jampel syndrome. The record also includes variant effect predictions.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2152809610
- ClinGen CA338910133
- ClinVar RCV001376032
- Uncertain significance
- Schwartz-Jampel syndrome
- Missense
- MetaLR 0.34
- MetaSVM -0.42
- PolyPhen-2 0.14
- SIFT 0.00
- MutPred 0.98
- ClinVar: Uncertain significance (Schwartz-Jampel syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance