P85T (p.Pro85Thr) variant of ATP6V1A (P38606)
P85T (p.Pro85Thr) in ATP6V1A (P38606) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
P85T (p.Pro85Thr) variant details
- p.Pro85Thr
- rs2108029577
- ClinGen CA354007237
- ClinVar RCV001886391
- Ensembl rs2108029577
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- AlphaMissense 0.86
- MetaLR 0.41
- MetaSVM -0.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.46
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available