P50Q (p.Pro50Gln) variant of MYO7A (Unconventional myosin-VIIa)
P50Q (p.Pro50Gln) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P50Q (p.Pro50Gln) variant details
- p.Pro50Gln
- rs372170717
- ClinGen CA6197058
- ClinVar RCV002781283
- ClinVar RCV005439084
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- AlphaMissense 0.15
- MetaLR 0.30
- MetaSVM -0.41
- PolyPhen-2 0.98
- SIFT 0.03
- EVE 0.13
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)