A39T (p.Ala39Thr) variant of AGTRAP (Q6RW13)
A39T (p.Ala39Thr) 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.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- gnomAD 1-11746146-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.51
- CADD 6.41
- SIFT 0.41
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available