P10T (p.Pro10Thr) variant of SLC26A4 (Pendrin)
P10T (p.Pro10Thr) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of SLC26A4-related disorder; not provided; Autosomal recessive nonsyndromic hearing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P10T (p.Pro10Thr) variant details
- p.Pro10Thr
- 1000Genomes rs200102493
- ESP rs200102493
- ExAC rs200102493
- TOPMed rs200102493
- Conflicting interpretations
- SLC26A4-related disorder; not provided; Autosomal recessive nonsyndromic hearing
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.48
- MetaSVM -0.45
- CADD 20.50
- ClinVar: Conflicting classifications of pathogenicity (SLC26A4-related disorder; not provided; Autosomal recessive nons)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available