L99P (p.Leu99Pro) variant of KCNJ10 (P78508)
L99P (p.Leu99Pro) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of EAST syndrome; not provided; Autosomal recessive nonsyndromic hearing loss 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and published literature.
L99P (p.Leu99Pro) variant details
- p.Leu99Pro
- rs540341763
- ClinGen CA1193261
- ClinVar RCV000259824
- ClinVar RCV000354704
- Conflicting interpretations
- EAST syndrome; not provided; Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.39
- ClinVar: Conflicting classifications of pathogenicity (EAST syndrome; not provided; Autosomal recessive nonsyndromic he)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)