R13T (p.Arg13Thr) variant of PCCB (P05166)
R13T (p.Arg13Thr) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R13T (p.Arg13Thr) variant details
- p.Arg13Thr
- gnomAD 3-136250413-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.20
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available