P47L (p.Pro47Leu) variant of CLCN5 (P51795)
P47L (p.Pro47Leu) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
P47L (p.Pro47Leu) variant details
- p.Pro47Leu
- gnomAD X-50042439-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.49
- MetaLR 0.79
- MetaSVM 0.58
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- Literature evidence available