G37A (p.Gly37Ala) variant of MAPT (P10636)
G37A (p.Gly37Ala) in MAPT (P10636) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G37A (p.Gly37Ala) variant details
- p.Gly37Ala
- TOPMed rs966689443
- gnomAD rs966689443
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.04
- MetaLR 0.17
- MetaSVM -1.00
- CADD 23.60
- PolyPhen-2 0.92
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available