L21R (p.Leu21Arg) variant of PCCB (P05166)
L21R (p.Leu21Arg) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L21R (p.Leu21Arg) variant details
- p.Leu21Arg
- gnomAD 3-136250437-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available