N34S (p.Asn34Ser) variant of AGTRAP (Q6RW13)
N34S (p.Asn34Ser) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
N34S (p.Asn34Ser) variant details
- p.Asn34Ser
- gnomAD 1-11747478-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.22
- CADD 25.90
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available