L14P (p.Leu14Pro) variant of PCCB (P05166)
L14P (p.Leu14Pro) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- gnomAD 3-136250416-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available