N24S (p.Asn24Ser) variant of SLC6A1 (P30531)
N24S (p.Asn24Ser) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
N24S (p.Asn24Ser) variant details
- p.Asn24Ser
- gnomAD 3-11017282-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.18
- CADD 19.10
- PolyPhen-2 0.08
- SIFT 0.24
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available