L4P (p.Leu4Pro) variant of MUSK (O15146)
L4P (p.Leu4Pro) in MUSK (O15146) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- gnomAD 9-110668915-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.20
- MetaLR 0.20
- MetaSVM -0.73
- CADD 24.50
- PolyPhen-2 0.26
- SIFT 0.02
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available