M1T (p.Met1Thr) variant of FSHR (P23945)
M1T (p.Met1Thr) in FSHR (P23945) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions, population frequency data, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs955385021
- ClinGen CA47428784
- ClinVar RCV000626622
- Pathogenic
- Missense
- MetaLR 0.47
- MetaSVM -0.11
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available