T62A (p.Thr62Ala) variant of SLC25A20 (O43772)
T62A (p.Thr62Ala) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
T62A (p.Thr62Ala) variant details
- p.Thr62Ala
- Ensembl rs2106665823
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.73
- MetaLR 0.66
- MetaSVM 0.36
- CADD 24.80
- PolyPhen-2 0.95
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available