D34N (p.Asp34Asn) variant of MAPT (P10636)
D34N (p.Asp34Asn) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
D34N (p.Asp34Asn) variant details
- p.Asp34Asn
- gnomAD 17-45962437-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.10
- MetaLR 0.20
- MetaSVM -0.86
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available