T32N (p.Thr32Asn) variant of MUSK (O15146)
T32N (p.Thr32Asn) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
T32N (p.Thr32Asn) variant details
- p.Thr32Asn
- gnomAD 9-110682689-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.16
- MetaLR 0.39
- MetaSVM -0.32
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.11
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available