D20N (p.Asp20Asn) variant of ATP1A1 (P05023)
D20N (p.Asp20Asn) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
D20N (p.Asp20Asn) variant details
- p.Asp20Asn
- gnomAD 1-116384059-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.19
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the HGDP:TUJIA population (allele frequency 0.05)
- Structural context available
- Literature evidence available