Q60E (p.Gln60Glu) variant of SLC22A1 (O15245)
Q60E (p.Gln60Glu) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
Q60E (p.Gln60Glu) variant details
- p.Gln60Glu
- gnomAD 6-160122113-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.06
- CADD 6.36
- PolyPhen-2 0.02
- SIFT 0.72
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available