A12S (p.Ala12Ser) variant of PCCB (P05166)
A12S (p.Ala12Ser) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- gnomAD 3-136250409-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 8.95
- PolyPhen-2 0.01
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available