D21N (p.Asp21Asn) variant of MYO7A (Unconventional myosin-VIIa)
D21N (p.Asp21Asn) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
D21N (p.Asp21Asn) variant details
- p.Asp21Asn
- rs782546306
- ClinGen CA6197015
- ClinVar RCV001048922
- ClinVar RCV001274686
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.38
- CADD 22.70
- PolyPhen-2 0.25
- SIFT 0.29
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DRUZE population (allele frequency 0.071)
- Structural context available