L28V (p.Leu28Val) variant of PYGM (P11217)
L28V (p.Leu28Val) in PYGM (P11217) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L28V (p.Leu28Val) variant details
- p.Leu28Val
- TOPMed rs1592417170
- gnomAD rs1592417170
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.31
- ESM-1b 1.00
- AlphaMissense 0.16
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.19
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available