K9R (p.Lys9Arg) variant of MYO15A (Unconventional myosin-XV)
K9R (p.Lys9Arg) in MYO15A (Unconventional myosin-XV) is a missense change. Clinical records from ClinVar 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 0.43 / 1. The record also includes population frequency data and structural context.
K9R (p.Lys9Arg) variant details
- p.Lys9Arg
- ExAC rs758335963
- gnomAD rs758335963
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.42
- ESM-1b 0.38
- AlphaMissense 0.19
- CADD 21.10
- PolyPhen-2 0.40
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- Structural context available