V64L (p.Val64Leu) variant of TREX1 (Three-prime repair exonuclease 1)
V64L (p.Val64Leu) in TREX1 (Three-prime repair exonuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
V64L (p.Val64Leu) variant details
- p.Val64Leu
- gnomAD 3-48466845-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available