L27Q (p.Leu27Gln) variant of PCCA (P05165)
L27Q (p.Leu27Gln) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L27Q (p.Leu27Gln) variant details
- p.Leu27Gln
- gnomAD 13-100089200-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available