N52S (p.Asn52Ser) variant of MYO7A (Unconventional myosin-VIIa)
N52S (p.Asn52Ser) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
N52S (p.Asn52Ser) variant details
- p.Asn52Ser
- gnomAD rs1591224316
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.11
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available