N52K (p.Asn52Lys) variant of MYO7A (Unconventional myosin-VIIa)
N52K (p.Asn52Lys) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
N52K (p.Asn52Lys) variant details
- p.Asn52Lys
- rs886048669
- ClinGen CA381928672
- ClinVar RCV002735186
- ClinGen CA10639457
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.11
- CADD 4.67
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)