S27N (p.Ser27Asn) variant of AGTRAP (Q6RW13)
S27N (p.Ser27Asn) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S27N (p.Ser27Asn) variant details
- p.Ser27Asn
- rs1642114330
- gnomAD 1-11744546-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0927
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 2.77
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available