S15T (p.Ser15Thr) variant of PCCB (P05166)
S15T (p.Ser15Thr) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
S15T (p.Ser15Thr) variant details
- p.Ser15Thr
- rs947973688
- gnomAD 3-136251270-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0719
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 3.15
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available