A61V (p.Ala61Val) variant of TMEM43 (Transmembrane protein 43)
A61V (p.Ala61Val) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A61V (p.Ala61Val) variant details
- p.Ala61Val
- gnomAD 3-14130841-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.18
- MetaLR 0.23
- MetaSVM -0.71
- CADD 23.70
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available