K67N (p.Lys67Asn) variant of MAPT (P10636)
K67N (p.Lys67Asn) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K67N (p.Lys67Asn) variant details
- p.Lys67Asn
- gnomAD 17-45971926-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.14
- MetaLR 0.08
- MetaSVM -1.07
- CADD 28.80
- PolyPhen-2 0.82
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available