A3S (p.Ala3Ser) variant of TMEM127 (Transmembrane protein 127)
A3S (p.Ala3Ser) in TMEM127 (Transmembrane protein 127) 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.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- gnomAD 2-96265375-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.33
- MetaLR 0.71
- MetaSVM 0.22
- CADD 23.80
- PolyPhen-2 0.04
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available