S64N (p.Ser64Asn) variant of USH2A (Usherin)
S64N (p.Ser64Asn) in USH2A (Usherin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S64N (p.Ser64Asn) variant details
- p.Ser64Asn
- rs778199517
- ClinGen CA1396843
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10022
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.03
- CADD 16.60
- PolyPhen-2 0.03
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00024)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Usher Syndrome Type II. (PMID 20301515)