L21I (p.Leu21Ile) variant of PCCB (P05166)
L21I (p.Leu21Ile) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L21I (p.Leu21Ile) variant details
- p.Leu21Ile
- gnomAD 3-136250436-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.24
- ESM-1b 0.32
- AlphaMissense 0.09
- CADD 9.66
- PolyPhen-2 0.01
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available