S31R (p.Ser31Arg) variant of CDKN1A (P38936)
S31R (p.Ser31Arg) in CDKN1A (P38936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of CIP1/WAF1 TUMOR-ASSOCIATED POLYMORPHISM 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and published literature.
S31R (p.Ser31Arg) variant details
- p.Ser31Arg
- rs1801270
- ClinGen CA127261
- cosmic curated COSV55187
- ClinVar RCV000019125
- Benign
- CIP1/WAF1 TUMOR-ASSOCIATED POLYMORPHISM 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- AlphaMissense 0.08
- MetaLR 0.08
- MetaSVM -1.08
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.12
- ClinVar: Benign (CIP1/WAF1 TUMOR-ASSOCIATED POLYMORPHISM 1)
- EBI: Benign (in dbSNP:rs1801270)
- UniProt: Benign (in dbSNP:rs1801270)
- Population evidence available
- Cited in: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID 15489334)
- Cited in: Two variants of the CIP1/WAF1 gene occur together and are associated with human cancer. (PMID 7655464)