F38L (p.Phe38Leu) variant of PYGM (P11217)
F38L (p.Phe38Leu) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
F38L (p.Phe38Leu) variant details
- p.Phe38Leu
- gnomAD rs1478945166
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 23.60
- PolyPhen-2 0.06
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available