A4T (p.Ala4Thr) variant of PCCB (P05166)
A4T (p.Ala4Thr) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- ExAC rs771166696
- gnomAD rs771166696
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 21.80
- PolyPhen-2 0.96
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available