S2P (p.Ser2Pro) variant of KCNJ3 (P48549)
S2P (p.Ser2Pro) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
S2P (p.Ser2Pro) variant details
- p.Ser2Pro
- gnomAD 2-154698779-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.55
- CADD 27.20
- PolyPhen-2 0.54
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available