S92A (p.Ser92Ala) variant of USH2A (Usherin)
S92A (p.Ser92Ala) in USH2A (Usherin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa 39; Inborn genetic diseases; Usher syndrome type 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S92A (p.Ser92Ala) variant details
- p.Ser92Ala
- rs192918169
- ClinGen CA1396822
- ClinVar RCV001733053
- ClinVar RCV003451865
- Uncertain significance
- Retinitis pigmentosa 39; Inborn genetic diseases; Usher syndrome type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.10
- CADD 22.90
- PolyPhen-2 0.77
- SIFT 0.01
- ClinVar: Uncertain significance (Retinitis pigmentosa 39; Inborn genetic diseases; Usher syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)