N51S (p.Asn51Ser) variant of USH1C (Harmonin)
N51S (p.Asn51Ser) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Usher syndrome type 1C; Usher syndrome type 1; Autosomal recessive nonsyndromic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N51S (p.Asn51Ser) variant details
- p.Asn51Ser
- rs775363189
- ClinGen CA5905152
- ClinVar RCV000221329
- ClinVar RCV001589139
- Uncertain significance
- Usher syndrome type 1C; Usher syndrome type 1; Autosomal recessive nonsyndromic
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.05
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Usher syndrome type 1C; Usher syndrome type 1; Autosomal recessi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.72
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)