Q22R (p.Gln22Arg) variant of CLCN5 (P51795)
Q22R (p.Gln22Arg) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Q22R (p.Gln22Arg) variant details
- p.Gln22Arg
- gnomAD rs991814636
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.21
- MetaLR 0.42
- MetaSVM -0.79
- CADD 9.07
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available