M31L (p.Met31Leu) variant of MAPT (P10636)
M31L (p.Met31Leu) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
M31L (p.Met31Leu) variant details
- p.Met31Leu
- TOPMed rs1408013394
- gnomAD rs1408013394
- Missense
- Variant Prioritization Score for Impact Estimate 0.0924
- REVEL 0.02
- MetaLR 0.02
- MetaSVM -0.98
- CADD 0.24
- SIFT 1.00
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available