K43K (p.Lys43Lys) variant of ATP1A2 (P50993)
K43K (p.Lys43Lys) in ATP1A2 (P50993) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K43K (p.Lys43Lys) variant details
- p.Lys43Lys
- rs61734527
- gnomAD 1-160121203-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.407
- AlphaMissense 0.86
- MetaLR 0.47
- MetaSVM -0.05
- CADD 9.99
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the HGDP:MBUTI population (allele frequency 0.042)
- Structural context available
- Literature evidence available