N102S (p.Asn102Ser) variant of SRD5A2 (P31213)
N102S (p.Asn102Ser) in SRD5A2 (P31213) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
N102S (p.Asn102Ser) variant details
- p.Asn102Ser
- rs1418439291
- NCI-TCGA Cosmic COSV5187
- TOPMed rs1418439291
- gnomAD rs1418439291
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- CADD 6.48
- PolyPhen-2 0.00
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available