L28R (p.Leu28Arg) variant of PCCB (P05166)
L28R (p.Leu28Arg) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L28R (p.Leu28Arg) variant details
- p.Leu28Arg
- gnomAD 3-136250458-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.51
- ESM-1b 0.16
- AlphaMissense 0.06
- CADD 19.10
- PolyPhen-2 0.03
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available