H14L (p.His14Leu) variant of TMEM43 (Transmembrane protein 43)
H14L (p.His14Leu) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
H14L (p.His14Leu) variant details
- p.His14Leu
- gnomAD 3-14129440-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.26
- CADD 25.10
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available