S6A (p.Ser6Ala) variant of TMEM43 (Transmembrane protein 43)
S6A (p.Ser6Ala) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S6A (p.Ser6Ala) variant details
- p.Ser6Ala
- gnomAD 3-14129415-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.08
- CADD 18.80
- PolyPhen-2 0.08
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available