L58S (p.Leu58Ser) variant of TMEM43 (Transmembrane protein 43)
L58S (p.Leu58Ser) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L58S (p.Leu58Ser) variant details
- p.Leu58Ser
- gnomAD 3-14130832-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.23
- MetaLR 0.13
- MetaSVM -0.91
- CADD 22.90
- PolyPhen-2 0.29
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available