T34A (p.Thr34Ala) variant of LAMP2 (P13473)
T34A (p.Thr34Ala) in LAMP2 (P13473) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
T34A (p.Thr34Ala) variant details
- p.Thr34Ala
- ExAC rs778191463
- gnomAD rs778191463
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.08
- CADD 11.30
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available