S14F (p.Ser14Phe) variant of SLC22A1 (O15245)
S14F (p.Ser14Phe) in SLC22A1 (O15245) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S14F (p.Ser14Phe) variant details
- p.Ser14Phe
- rs34447885
- UniProt VAR 043319
- 1000Genomes rs34447885
- ESP rs34447885
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.14
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BIAKA population (allele frequency 0.11)
- Structural context available
- Cited in: Evolutionary conservation predicts function of variants of the human organic cation transporter, OCT1. (PMID 12719534)