T36I (p.Thr36Ile) variant of MUSK (O15146)
T36I (p.Thr36Ile) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
T36I (p.Thr36Ile) variant details
- p.Thr36Ile
- gnomAD rs1187922371
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.33
- MetaLR 0.44
- MetaSVM -0.11
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available