S22N (p.Ser22Asn) variant of TGFBR2 (TGF-beta receptor type-2)
S22N (p.Ser22Asn) in TGFBR2 (TGF-beta receptor type-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S22N (p.Ser22Asn) variant details
- p.Ser22Asn
- cosmic curated COSV10962
- Ensembl rs2125438785
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.13
- CADD 23.80
- PolyPhen-2 0.02
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available