S55C (p.Ser55Cys) variant of AGTRAP (Q6RW13)
S55C (p.Ser55Cys) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
S55C (p.Ser55Cys) variant details
- p.Ser55Cys
- rs763519744
- gnomAD 1-11746200-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0594
- REVEL 0.00
- ESM-1b 0.17
- AlphaMissense 0.11
- CADD 0.35
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available