S83T (p.Ser83Thr) variant of CHAMP1 (Q96JM3)
S83T (p.Ser83Thr) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S83T (p.Ser83Thr) variant details
- p.Ser83Thr
- ExAC rs782444125
- gnomAD rs782444125
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.01
- MetaSVM -0.90
- CADD 14.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available