P48A (p.Pro48Ala) variant of TREX1 (Three-prime repair exonuclease 1)
P48A (p.Pro48Ala) in TREX1 (Three-prime repair exonuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P48A (p.Pro48Ala) variant details
- p.Pro48Ala
- gnomAD 3-48466797-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- CADD 1.85
- PolyPhen-2 0.01
- SIFT 0.38
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available