T33S (p.Thr33Ser) variant of PCCB (P05166)
T33S (p.Thr33Ser) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
T33S (p.Thr33Ser) variant details
- p.Thr33Ser
- gnomAD 3-136250473-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 1.27
- PolyPhen-2 0.00
- SIFT 0.82
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available