M41T (p.Met41Thr) variant of CHD7 (Q9P2D1)
M41T (p.Met41Thr) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of See cases. The record also includes experimental measurements and structural context.
M41T (p.Met41Thr) variant details
- p.Met41Thr
- rs2487258362
- ClinGen CA371295740
- ClinVar RCV003224080
- Uncertain significance
- See cases
- Missense
- ClinVar: Uncertain significance (See cases)
- EBI: Variant of uncertain significance (in CHARGES)
- UniProt: Uncertain significance (in CHARGES)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.637