T32I (p.Thr32Ile) variant of MUSK (O15146)
T32I (p.Thr32Ile) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
T32I (p.Thr32Ile) variant details
- p.Thr32Ile
- gnomAD rs1248339762
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.35
- MetaLR 0.38
- MetaSVM -0.27
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available