V22L (p.Val22Leu) variant of MYO7A (Unconventional myosin-VIIa)
V22L (p.Val22Leu) 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; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
V22L (p.Val22Leu) variant details
- p.Val22Leu
- rs376701580
- ClinGen CA6197018
- cosmic curated COSV10128
- ClinVar RCV001565152
- Uncertain significance
- Inborn genetic diseases; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.69
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases; not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 9e-05)
- 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)