L11M (p.Leu11Met) variant of PCCA (P05165)
L11M (p.Leu11Met) in PCCA (P05165) 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 0.28 / 1. The record also includes population frequency data and structural context.
L11M (p.Leu11Met) variant details
- p.Leu11Met
- Ensembl rs2152189477
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 18.80
- PolyPhen-2 0.99
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available