G37V (p.Gly37Val) variant of MAPT (P10636)
G37V (p.Gly37Val) in MAPT (P10636) 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 0.29 / 1. The record also includes population frequency data and structural context.
G37V (p.Gly37Val) variant details
- p.Gly37Val
- rs966689443
- ClinGen CA399898799
- ClinVar RCV001756236
- TOPMed rs966689443
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.12
- MetaLR 0.20
- MetaSVM -0.95
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available