Q134K (p.Gln134Lys) variant of SLC4A1 (Band 3 anion transport protein)
Q134K (p.Gln134Lys) in SLC4A1 (Band 3 anion transport protein) 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 and structural context.
Q134K (p.Gln134Lys) variant details
- p.Gln134Lys
- ExAC rs772316375
- gnomAD rs772316375
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.10
- CADD 10.10
- PolyPhen-2 0.00
- SIFT 0.55
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available