M39T (p.Met39Thr) variant of ATP1A2 (P50993)
M39T (p.Met39Thr) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
M39T (p.Met39Thr) variant details
- p.Met39Thr
- gnomAD 1-160121009-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.37
- CADD 20.80
- PolyPhen-2 0.09
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available