A22T (p.Ala22Thr) variant of KCNQ5 (Q9NR82)
A22T (p.Ala22Thr) in KCNQ5 (Q9NR82) is a missense change. 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.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- cosmic curated COSV59657
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.37
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.89
- Most common in the Latino/Admixed American population (allele frequency 0.00012)
- Structural context available