S45F (p.Ser45Phe) variant of CLDN14 (Claudin-14)
S45F (p.Ser45Phe) in CLDN14 (Claudin-14) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Nonsyndromic genetic hearing loss. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S45F (p.Ser45Phe) variant details
- p.Ser45Phe
- TOPMed rs1044825412
- gnomAD rs1044825412
- Uncertain significance
- Nonsyndromic genetic hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.41
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.06
- ClinVar: Uncertain significance (Nonsyndromic genetic hearing loss)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available