A21V (p.Ala21Val) variant of TREX1 (Three-prime repair exonuclease 1)
A21V (p.Ala21Val) in TREX1 (Three-prime repair exonuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- gnomAD 3-48466717-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available