S25F (p.Ser25Phe) variant of CLCN5 (P51795)
S25F (p.Ser25Phe) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S25F (p.Ser25Phe) variant details
- p.Ser25Phe
- gnomAD rs1557187281
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.33
- MetaLR 0.64
- MetaSVM 0.18
- CADD 22.90
- PolyPhen-2 0.19
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available