A18T (p.Ala18Thr) variant of PCCB (P05166)
A18T (p.Ala18Thr) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- gnomAD 3-136250427-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 13.00
- PolyPhen-2 0.03
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available