A53V (p.Ala53Val) variant of AGTRAP (Q6RW13)
A53V (p.Ala53Val) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A53V (p.Ala53Val) variant details
- p.Ala53Val
- rs936361315
- gnomAD 1-11746183-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.02
- ESM-1b 1.00
- AlphaMissense 0.82
- CADD 4.66
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available