H71N (p.His71Asn) variant of AGTRAP (Q6RW13)
H71N (p.His71Asn) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
H71N (p.His71Asn) variant details
- p.His71Asn
- gnomAD 1-11746209-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.04
- ESM-1b 0.59
- AlphaMissense 0.13
- CADD 0.51
- SIFT 0.60
- Population evidence available
- Structural context available
- Literature evidence available