P83A (p.Pro83Ala) variant of ATP1A1 (P05023)
P83A (p.Pro83Ala) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
P83A (p.Pro83Ala) variant details
- p.Pro83Ala
- gnomAD 1-116387351-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.46
- CADD 23.20
- PolyPhen-2 0.14
- SIFT 0.03
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Literature evidence available