p.Pro11 Pro14del variant of SLC26A4 (Pendrin)
p.Pro11 Pro14del in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
p.Pro11 Pro14del variant details
- gnomAD 7-107661671-GCCGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.289
- CADD 20.90
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Literature evidence available