A8T (p.Ala8Thr) variant of PCCB (P05166)
A8T (p.Ala8Thr) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- TOPMed rs1426876371
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available