R48S (p.Arg48Ser) variant of AGTRAP (Q6RW13)
R48S (p.Arg48Ser) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R48S (p.Arg48Ser) variant details
- p.Arg48Ser
- rs1217161894
- gnomAD 1-11746136-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.03
- ESM-1b 1.00
- AlphaMissense 0.50
- CADD 6.01
- SIFT 0.62
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available