L48P (p.Leu48Pro) variant of MAPT (P10636)
L48P (p.Leu48Pro) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L48P (p.Leu48Pro) variant details
- p.Leu48Pro
- gnomAD 17-45971868-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.03
- MetaLR 0.03
- MetaSVM -1.06
- CADD 15.40
- PolyPhen-2 0.34
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available