P4L (p.Pro4Leu) variant of MAPT (P10636)
P4L (p.Pro4Leu) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- gnomAD rs1477365646
- cosmic curated COSV10510
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.13
- MetaLR 0.22
- MetaSVM -0.74
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available