p.Tyr27 Ser28insAsn variant of SLC26A4 (Pendrin)
p.Tyr27 Ser28insAsn in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
p.Tyr27 Ser28insAsn variant details
- gnomAD 7-107661720-T-TAC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.509
- CADD 22.00
- Population evidence available
- Structural context available
- Literature evidence available