A18S (p.Ala18Ser) variant of PCCB (P05166)
A18S (p.Ala18Ser) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- gnomAD 3-136250427-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 9.33
- PolyPhen-2 0.03
- SIFT 0.59
- Population evidence available
- Structural context available
- Literature evidence available