R23K (p.Arg23Lys) variant of MAPT (P10636)
R23K (p.Arg23Lys) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R23K (p.Arg23Lys) variant details
- p.Arg23Lys
- cosmic curated COSV52248
- gnomAD rs1224565965
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.13
- MetaLR 0.05
- MetaSVM -1.09
- CADD 22.50
- PolyPhen-2 0.84
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available